ClinVar Miner

List of variants reported as benign for RAB23-related Carpenter syndrome

Included ClinVar conditions (1):
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_016277.5(RAB23):c.*1740C>T rs9382689 0.26771
NM_016277.5(RAB23):c.*2273T>C rs12211901 0.15299
NM_016277.5(RAB23):c.*3330A>G rs72868608 0.14241
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) rs1040461 0.11622
NM_016277.5(RAB23):c.*2425G>A rs62415930 0.03215
NM_016277.5(RAB23):c.*2485A>G rs16888376 0.01354
NM_016277.5(RAB23):c.*811G>A rs16888378 0.01316
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896 0.00575
NM_016277.5(RAB23):c.-23C>T rs145059995 0.00424
NM_016277.5(RAB23):c.218C>T (p.Ala73Val) rs556931606 0.00001

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